congenital NDI

DEFINITION:

Congenital nephrogenic diabetes insipidus. A condition of the kidneys existing at birth.

inherited

DEFINITION:

That which has been acquired by transmission from parent to offspring.

mutations

DEFINITION:

1. Changes in form, quality, or some other characteristic.

2. In genetics, permanent transmissible changes in the genetic material, usually in a single gene.

See definitions for individual types of mutations under "mutation."

vasopressin-2 receptor

DEFINITION:

The molecular structure within a cell or on the surface to which the antidiuretic hormone, arginine vasopressin, binds.

V2R

DEFINITION:

Vasopressin-2 receptor.

gene

DEFINITION:

A segment of a DNA molecule that contains all the information required for synthesis of a product (polypeptide chain or RNA molecule), including both coding and non-coding sequences. It is the biological unit of heredity, self-reproducing, and transmitted from parent to progeny. Each gene has a specific position (locus) on the chromosome map. From the standpoint of function, genes are conceived of as structural, operator, and regulatory genes.

wild-type gene - The normal allele of a gene, sometimes symbolized by +.

X-linked gene - A gene carried on the X chromosome; the corresponding trait, whether dominant or recessive, is always expressed in males, who have only one X chromosome. X linkage is used sometimes synonymously with sex linkage since no genetic disorders have as yet been associated with genes on the Y chromosome.

molecular

DEFINITION:

Of, pertaining to, or composed of molecules.

NDI

DEFINITION:

Nephrogenic diabetes insipidus.

mutations

DEFINITION:

1. Changes in form, quality, or some other characteristic.

2. In genetics, permanent transmissible changes in the genetic material, usually in a single gene.

See definitions for individual types of mutations under "mutation."

V2R gene

DEFINITION:

Vasopressin-2 receptor gene.

abnormalities

DEFINITION:

1. The quality or fact of being abnormal.

2. Malformations, deformities, or anomalies.

V2Rs

DEFINITION:

Vasopressin-2 receptors.

genes

DEFINITION:

In the singular: A segment of a DNA molecule that contains all the information required for synthesis of a product (polypeptide chain or RNA molecule), including both coding and non-coding sequences. It is the biological unit of heredity, self-reproducing, and transmitted from parent to progeny. Each gene has a specific position (locus) on the chromosome map. From the standpoint of function, genes are conceived of as structural, operator, and regulatory genes.

wild-type gene - The normal allele of a gene, sometimes symbolized by +.

X-linked gene - A gene carried on the X chromosome; the corresponding trait, whether dominant or recessive, is always expressed in males, who have only one X chromosome. X linkage is used sometimes synonymously with sex linkage since no genetic disorders have as yet been associated with genes on the Y chromosome.

affect

DEFINITION:

1. To produce an effect on; influence.

2. The external expression of emotion attached to ideas or mental representations of objects.

V2Rs

DEFINITION:

Vasopressin-2 receptors.

V2R

DEFINITION:

Vasopressin-2 receptor.

V2R

DEFINITION:

Vasopressin-2 receptor.

therapeutic

DEFINITION:

A term meaning "related to treatment." The therapeutic dose of a drug is the amount required to have a beneficial effect.

NDI

DEFINITION:

Nephrogenic diabetes insipidus.

mutations

DEFINITION:

1. Changes in form, quality, or some other characteristic.

2. In genetics, permanent transmissible changes in the genetic material, usually in a single gene.

See definitions for individual types of mutations under "mutation."

V2R gene

DEFINITION:

Vasopressin-2 receptor gene.

NDI

DEFINITION:

Nephrogenic diabetes insipidus.

point-mutation

DEFINITION:

A mutation resulting from a change in a single base pair in the DNA molecule, caused by the substitution of one nucleotide for another.

mutation

DEFINITION:

frameshift mutation - A mutation resulting from an addition or subtraction that is not an exact multiple of 3 base pairs in a coding sequence. From the point of mutation onwards, base triplets (codons) are read out of phase; the reading frame of the gene is changed, and a completely different set of amino acids is made into protein.

loss-of-function mutation - Impairment of the function of a gene caused by mutation.

missense mutation - A mutation that changes a codon so that it codes for a different amino acid.

nonsense mutation - A mutation in which one of the three terminator codons in the mRNA (UAG, amber; UAA, ochre; UGA, umber or opal), used to signal the end of a polypeptide, appears in the middle of a genetic message, causes premature termination of transcription, and releases incomplete, generally nonfunctional polypeptides from the ribosome.

V2R gene

DEFINITION:

nucleotide

DEFINITION:

Any of several compounds that consist of a ribose or deoxyribose sugar joined to a purine or pyrimidine base and to a phosphate group and that are the basic structural units of RNA and DNA.

V2R gene

DEFINITION:

Vasopressin-2 receptor gene.

amino acid

DEFINITION:

An amphoteric organic acid containing the amino group NH2; esp.: any of the alpha-amino acids that are the chief components of proteins and are synthesized by living cells or are obtained as essential components of the diet.

site

DEFINITION:

A place, position, or locus.

point mutation

DEFINITION:

A mutation resulting from a change in a single base pair in the DNA molecule, caused by the substitution of one nucleotide for another.

amino acids

DEFINITION:

See definition for "amino acid."

protein

DEFINITION:

Any of a group of complex organic compounds which contain carbon, hydrogen, oxygen, nitrogen, and usually sulfur, the characteristic element being nitrogen, and which are widely distributed in plants and animals. Proteins, the principal constituents of the protoplasm of all cells, are of high molecular weight and consist essentially of combinations of a-amino acids in peptide linkages. Twenty different amino acids are commonly found in proteins, and each protein has a unique, genetically defined amino acid sequence which determines its specific shape and function. They serve as enzymes, structural elements, hormones, immunoglobulins, etc., and are involved in oxygen transport, muscle contraction, electron transport, and other activities throughout the body, and in photosynthesis.

binding protein - any of a number of plasma proteins (See below) that bind to hormones of low solubility (chiefly the thyroid and steroid hormones), thus providing a transport system for them; some are specific for particular hormones, while others bind to any sparingly soluble hormones. Called also carrier protein or transport protein (See below).

carrier proteins - A binding protein (See above).

plasma proteins - The hundreds of different proteins present in blood plasma, including carrier proteins (such as albumin, transferrin, and haptoglobin), fibrinogen and other coagulation factors, complement components, immunoglobulins, enzyme inhibitors, precursors of substances such as angiotensin and bradykinin, and many other types of proteins.

transport protein - binding protein (See above).

V2R

DEFINITION:

Vasopressin-2 receptor.

protein

DEFINITION:

Any of a group of complex organic compounds which contain carbon, hydrogen, oxygen, nitrogen, and usually sulfur, the characteristic element being nitrogen, and which are widely distributed in plants and animals. Proteins, the principal constituents of the protoplasm of all cells, are of high molecular weight and consist essentially of combinations of a-amino acids in peptide linkages. Twenty different amino acids are commonly found in proteins, and each protein has a unique, genetically defined amino acid sequence which determines its specific shape and function. They serve as enzymes, structural elements, hormones, immunoglobulins, etc., and are involved in oxygen transport, muscle contraction, electron transport, and other activities throughout the body, and in photosynthesis.

binding protein - any of a number of plasma proteins (See below) that bind to hormones of low solubility (chiefly the thyroid and steroid hormones), thus providing a transport system for them; some are specific for particular hormones, while others bind to any sparingly soluble hormones. Called also carrier protein or transport protein (See below).

carrier proteins - A binding protein (See above).

plasma proteins - The hundreds of different proteins present in blood plasma, including carrier proteins (such as albumin, transferrin, and haptoglobin), fibrinogen and other coagulation factors, complement components, immunoglobulins, enzyme inhibitors, precursors of substances such as angiotensin and bradykinin, and many other types of proteins.

transport protein - binding protein (See above).

V2R

DEFINITION:

Vasopressin-2 receptor.

V2R gene

DEFINITION:

Vasopressin-2 receptor gene.

mutation

DEFINITION:

frameshift mutation - A mutation resulting from an addition or subtraction that is not an exact multiple of 3 base pairs in a coding sequence. From the point of mutation onwards, base triplets (codons) are read out of phase; the reading frame of the gene is changed, and a completely different set of amino acids is made into protein.

loss-of-function mutation - Impairment of the function of a gene caused by mutation.

missense mutation - A mutation that changes a codon so that it codes for a different amino acid.

nonsense mutation - A mutation in which one of the three terminator codons in the mRNA (UAG, amber; UAA, ochre; UGA, umber or opal), used to signal the end of a polypeptide, appears in the middle of a genetic message, causes premature termination of transcription, and releases incomplete, generally nonfunctional polypeptides from the ribosome.

nucleotide

DEFINITION:

Any of several compounds that consist of a ribose or deoxyribose sugar joined to a purine or pyrimidine base and to a phosphate group and that are the basic structural units of RNA and DNA.

genes

DEFINITION:

In the singular: A segment of a DNA molecule that contains all the information required for synthesis of a product (polypeptide chain or RNA molecule), including both coding and non-coding sequences. It is the biological unit of heredity, self-reproducing, and transmitted from parent to progeny. Each gene has a specific position (locus) on the chromosome map. From the standpoint of function, genes are conceived of as structural, operator, and regulatory genes.

wild-type gene - The normal allele of a gene, sometimes symbolized by +.

X-linked gene - A gene carried on the X chromosome; the corresponding trait, whether dominant or recessive, is always expressed in males, who have only one X chromosome. X linkage is used sometimes synonymously with sex linkage since no genetic disorders have as yet been associated with genes on the Y chromosome.

nucleotide bases

DEFINITION:

linked

DEFINITION:

In genetics, pertaining to linkage (def. 2); See also X-linked under gene .

phosphate

DEFINITION:

1. Any salt of phosphoric acid or its anions, particularly referring to orthophosphate (inorganic phosphate). 2. Any ester of phosphoric acid or of one of its salts or anions; an organic phosphate.

side chains

DEFINITION:

Groups of atoms attached to a larger chain or to a ring; called also "lateral chain."

base

DEFINITION:

1. The main ingredient of a compound.

2. In chemistry, the nonacid part of a salt; a substance that combines with acids to form salts; a substance that dissociates to give hydroxide ions in aqueous solutions; a substance whose molecule or ion can combine with a proton (hydrogen ion); a substance capable of donating a pair of electrons (to an acid) for the formation of a coordinate covalent bond.

3. In genetics, a nucleotide, particularly one in a nucleic acid sequence.

4. Indicating the bottom of an organ or other object.

5. Foundation.

6. A side or face on which a geometrical figure stands; also, the length of a base.

7. The point of beginning an act or operation.

8. A place on which a force depends for supplies.

9. A number (as 5 in 57) that is raised to a power; especially, a number that when raised to a power equal to the logarithm of a number yields the number itself (the logarithm of 100 to ~ 10 is 2 since 102 = 100).

10. The number of units in a given digit's place of a number system that is required to give the numeral 1 in the next higher place (the decimal system uses a ~ of 10); also, such a system using an indicated base (convert from ~ 10 to ~ 2).

11. Any of the four stations at the corners of a baseball diamond.

12. To form or serve as a base for.

13. Establish.

14. Of inferior quality; debased, alloyed.

15. Contemptible, ignoble.

16. Menial, degrading.

17. Of little value.

adenine

DEFINITION:

A major purine base; in animal and plant cells it usually occurs condensed with ribose or deoxyribose to form the nucleosides adenosine and deoxyadenosine. As such, it is a component of nucleic acids, of certain nucleotides, and of many coenzymes. Symbol A. The official preparation [USP] contains 98 to 102 percent adenine, calculated on the dried basis, and is used to improve the preservation of whole blood.

cytosine

DEFINITION:

A pyrimidine base found in animal and plant cells, usually occurring condensed with ribose or deoxyribose to form the nucleosides cytidine and deoxycytidine, major constituents of nucleic acids. Symbol C.

guanine

DEFINITION:

A purine base, in animal and plant cells usually occurring condensed with ribose or deoxyribose to form the nucleosides guanosine and deoxyguanosine; these nucleosides are components of nucleic acids and of free nucleotides important in metabolism. Symbol G.

G

DEFINITION:

As G - Symbol for "gauss," "giga-," "gravida," and "guanine" or "guanosine."

thymine

DEFINITION:

A pyrimidine base, in animal cells usually occurring condensed with deoxyribose to form the nucleoside deoxythymidine, a component of deoxyribonucleic acid. The corresponding ribonucleoside, thymidine, is a rare constituent of ribonucleic acids.

amino acid

DEFINITION:

An amphoteric organic acid containing the amino group NH2; esp.: any of the alpha-amino acids that are the chief components of proteins and are synthesized by living cells or are obtained as essential components of the diet.

tyrosine

DEFINITION:

A crystallizable, nonessential amino acid, ß-p-hydroxyphenylalanine, found in most proteins and synthesized metabolically from phenylalanine; it is a precursor of thyroid hormones, catecholamines, and melanin. Symbols Tyr and Y.

serine

DEFINITION:

A naturally occurring, nonessential amino acid, 2-amino-3-hydroxypropionic acid; it may be synthesized from glycine, and is used as a dietary supplement and feed additive, in biological studies and tests, and in culture media. Symbol Ser.

mutation

DEFINITION:

frameshift mutation - A mutation resulting from an addition or subtraction that is not an exact multiple of 3 base pairs in a coding sequence. From the point of mutation onwards, base triplets (codons) are read out of phase; the reading frame of the gene is changed, and a completely different set of amino acids is made into protein.

loss-of-function mutation - Impairment of the function of a gene caused by mutation.

missense mutation - A mutation that changes a codon so that it codes for a different amino acid.

nonsense mutation - A mutation in which one of the three terminator codons in the mRNA (UAG, amber; UAA, ochre; UGA, umber or opal), used to signal the end of a polypeptide, appears in the middle of a genetic message, causes premature termination of transcription, and releases incomplete, generally nonfunctional polypeptides from the ribosome.

mutation

DEFINITION:

frameshift mutation - A mutation resulting from an addition or subtraction that is not an exact multiple of 3 base pairs in a coding sequence. From the point of mutation onwards, base triplets (codons) are read out of phase; the reading frame of the gene is changed, and a completely different set of amino acids is made into protein.

loss-of-function mutation - Impairment of the function of a gene caused by mutation.

missense mutation - A mutation that changes a codon so that it codes for a different amino acid.

nonsense mutation - A mutation in which one of the three terminator codons in the mRNA (UAG, amber; UAA, ochre; UGA, umber or opal), used to signal the end of a polypeptide, appears in the middle of a genetic message, causes premature termination of transcription, and releases incomplete, generally nonfunctional polypeptides from the ribosome.

nucleotide

DEFINITION:

Any of several compounds that consist of a ribose or deoxyribose sugar joined to a purine or pyrimidine base and to a phosphate group and that are the basic structural units of RNA and DNA.

leucine

DEFINITION:

An essential amino acid, 2-amino-4-methylpentanoic acid, necessary for optimal growth in infants and for nitrogen equilibrium in human adults. It is obtained by the digestion or hydrolytic cleavage of protein. Symbols Leu and L.

amino acid

DEFINITION:

An amphoteric organic acid containing the amino group NH2; esp.: any of the alpha-amino acids that are the chief components of proteins and are synthesized by living cells or are obtained as essential components of the diet.

V2R gene

DEFINITION:

Vasopressin-2 receptor gene.

mutation

DEFINITION:

frameshift mutation - A mutation resulting from an addition or subtraction that is not an exact multiple of 3 base pairs in a coding sequence. From the point of mutation onwards, base triplets (codons) are read out of phase; the reading frame of the gene is changed, and a completely different set of amino acids is made into protein.

loss-of-function mutation - Impairment of the function of a gene caused by mutation.

missense mutation - A mutation that changes a codon so that it codes for a different amino acid.

nonsense mutation - A mutation in which one of the three terminator codons in the mRNA (UAG, amber; UAA, ochre; UGA, umber or opal), used to signal the end of a polypeptide, appears in the middle of a genetic message, causes premature termination of transcription, and releases incomplete, generally nonfunctional polypeptides from the ribosome.

deletion

DEFINITION:

In genetics, the loss of any portion of the genetic material on a chromosome, ranging from loss of a single nucleotide within, which can throw the reading frame out of register and cause a frameshift mutation if it is within a coding sequence, to loss of part or all of a gene, to loss of a microscopically visible portion of the chromosome, possibly involving multiple genes.

nucleotide bases

DEFINITION:

codon

DEFINITION:

A specific sequence of three consecutive nucleotides that is part of the genetic code and that specifies a particular amino acid in a protein or starts or stops protein synthesis. Also called triplet code.

codon

DEFINITION:

A specific sequence of three consecutive nucleotides that is part of the genetic code and that specifies a particular amino acid in a protein or starts or stops protein synthesis. Also called triplet code.

mutations

DEFINITION:

1. Changes in form, quality, or some other characteristic.

2. In genetics, permanent transmissible changes in the genetic material, usually in a single gene.